Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

Jan A.F.M. Luyten; Paul W. Wenink; Gerry C.H. Steenbergen-Spanjers; Ron A. Wevers; Hans Kristian Ploos van Amstel; Jan G.N. de Jong; Lambert P.W.J. van den Heuvel

doi:10.1007/BF00210424

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

Jan A.F.M. Luyten^*
, Paul W. Wenink
, Gerry C.H. Steenbergen-Spanjers
, Ron A. Wevers
, Hans Kristian Ploos van Amstel
, Jan G.N. de Jong
, Lambert P.W.J. van den Heuvel

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

13 Citations (Scopus)

Abstract

Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C→T transition.

Original language	English
Pages (from-to)	357-360
Number of pages	4
Journal	Human Genetics
Volume	96
Issue number	3
DOIs	https://doi.org/10.1007/BF00210424
Publication status	Published - 1 Sept 1995

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title = "Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant",

abstract = "Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C→T transition.",

author = "Luyten, \{Jan A.F.M.\} and Wenink, \{Paul W.\} and Steenbergen-Spanjers, \{Gerry C.H.\} and Wevers, \{Ron A.\} and \{van Amstel\}, \{Hans Kristian Ploos\} and \{de Jong\}, \{Jan G.N.\} and \{van den Heuvel\}, \{Lambert P.W.J.\}",

year = "1995",

month = sep,

day = "1",

doi = "10.1007/BF00210424",

language = "English",

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T1 - Metachromatic leukodystrophy

T2 - a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

AU - Luyten, Jan A.F.M.

AU - Wenink, Paul W.

AU - Steenbergen-Spanjers, Gerry C.H.

AU - Wevers, Ron A.

AU - van Amstel, Hans Kristian Ploos

AU - de Jong, Jan G.N.

AU - van den Heuvel, Lambert P.W.J.

PY - 1995/9/1

Y1 - 1995/9/1

N2 - Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C→T transition.

AB - Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C→T transition.

UR - https://www.scopus.com/pages/publications/0029092310

U2 - 10.1007/BF00210424

DO - 10.1007/BF00210424

M3 - Article

C2 - 7649558

AN - SCOPUS:0029092310

SN - 0340-6717

VL - 96

SP - 357

EP - 360

JO - Human Genetics

JF - Human Genetics

IS - 3

ER -

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

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